Refsum's disease is named after Norwegian neurologist Sigvald Bernhard Refsum (1907-1991); and it is a neurological disease that results in the malformation of myelin sheaths around nerve cells. It is one of a family of disorders called leukodystrophies.Refsum's disease is caused by faulty enzymes during the alpha-oxidation of phytanic acid resulting in buildup of phytanic acid and its unsaturated fatty acid derivatives in the plasma and tissues.This in turn can be due to deficiencies of phytanoyl-CoA hydroxylase (chromosome 10) or peroxin-7 (chromosome 6).
The most effective therapy in the classic Refsum disease is dietary treatment with a phytanic acid-restricted diet, such as exclusively avoiding green plants and to a lesser extent, consumption of fatty animal tissues from beef, lamb, and fatty fish such as tuna, cod, and haddock . Recent research has shown that CYP4 isoform enzymes could eliminate the phytanic acid storage in vivo and patients could try alternative natural remedies with either eatable marine invertebrates or with clofibrate supplement of which the component is usually rich in the excretion of high plant. Currently, there is no clinical data to approve using this xenonbiotic drug for the treatment, perhaps due to its serious adverse effect and the major medical treatment of the disease only relies on the plasmapheresis.

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